MLPA® - MRC Holland Kits
Please note before download:
- Mix descriptions are only free of charge for customers with maintenance contract.
- Don't hesitate to contact us, if there are any mix descriptions missing on this website.
-
To set up a new mix descriptions for you, still available at MRC Hollands website, please provide us the name of the mix (e.g. P002-D1), the version of the mix (e.g. Vs.02) and the date of its release.
- To set up a new mix descriptions for you, not available at MRC Hollands website any more, please provide us the corresponding document by email or fax (+49-7822-440150-20).
Download
- log into your SEQUENCE Pilot installation
- go to category MLPA®
- go to operation Mixes [master file]
- press button [Import] and select the downloaded mme-file
- if the corresponding mix already exists in your SEQUENE_PILOT installation you will be asked "Do you want to save the mix with a new name / lot?"; please press button [Yes] and complete the fields in the following dialogue; press button [OK] to save your entries
- if the mix doesn't exist yet just press button [OK] in the following dialogue
MIX
VERSION
DATE
REGION
APPLICATION
DOWNLOAD
MIX
P240-A5
VERSION
Vs. A5-01
DATE
23-04-2021
REGION
BRIP1 17q23.2; CHEK1 11q24.2
APPLICATION
Predisposition to develop cancer, hereditary
MIX
P241-E1
VERSION
Vs. E1-04
DATE
15-02-2018
REGION
HNF4A 20q13, GCK 7p13, HNF1A 12q24, IPF1 13q12, HNF1B 17q12, NEUROD1 2q31
APPLICATION
Maturity-Onset Diabetes of the Young (MODY)
MIX
P241-E1
VERSION
Vs. E1-05
DATE
15-06-2020
REGION
HNF4A 20q13, GCK 7p13, HNF1A 12q24, HNF1B 17q12
APPLICATION
Maturity-Onset Diabetes of the Young (MODY)
MIX
P241-E1
VERSION
Vs. E1-06
DATE
01-07-2021
REGION
HNF1A 12q24.31; HNF1B 17q12; HNF4A 20q13.12; GCK 7p13
APPLICATION
Maturity-onset diabetes of the young (MODY) type 1, 2, 3, 5; Renal cysts and diabetes syndrome (RCAD)
MIX
P241-E1
VERSION
Vs. E1-07
DATE
04-12-2023
REGION
HNF1A 12q24.31; HNF1B 17q12; HNF4A 20q13.12; GCK 7p13
APPLICATION
Maturity-onset diabetes of the young (MODY) type 1, 2, 3, 5; Renal cysts and diabetes syndrome (RCAD)
MIX
P242-B3
VERSION
Vs. B3-01
DATE
23-11-2018
REGION
PRSS1 7q34, SPINK1 5q32
APPLICATION
Hereditary Pancreatitis (HP)
MIX
P242-C1
VERSION
Vs. C1-01
DATE
10-12-2019
REGION
PRSS1 7q34; SPINK1 5q32; CTRC 1p36.21
APPLICATION
Pancreatitis, hereditary (HP)
MIX
P242-C1
VERSION
Vs. C1-02
DATE
23-02-2021
REGION
PRSS1 7q34; SPINK1 5q32; CTRC 1p36.21
APPLICATION
Pancreatitis, hereditary (HP)
MIX
P242-C1
VERSION
Vs. C1-03
DATE
03-08-2023
REGION
PRSS1 7q34; SPINK1 5q32; CTRC 1p36.21
APPLICATION
Pancreatitis, hereditary (HP)
MIX
P243-B1
VERSION
Vs. 10
DATE
07-09-2017
REGION
SERPING1 11q12.1
APPLICATION
Hereditary angioedema (HAE)
MIX
P243-B1
VERSION
Vs. B1-01
DATE
28-09-2018
REGION
SERPING1 11q12.1; F12 5q35.3
APPLICATION
Hereditary angioedema (HAE)
MIX
P243-B1
VERSION
Vs. B1-02
DATE
24-02-2022
REGION
SERPING1 11q12.1; F12 5q35.3
APPLICATION
Hereditary angioedema (HAE)
MIX
P244-C1
VERSION
Vs. 09
DATE
28-04-2016
REGION
AIP 11q13, MEN1 11q13
APPLICATION
Multiple endocrine neoplasia (MEN)
MIX
P244-D1
VERSION
Vs. D1-01
DATE
23-08-2019
REGION
AIP 11q13, MEN1 11q13
APPLICATION
Multiple endocrine neoplasia (MEN)
MIX
P244-D1
VERSION
Vs. D1-02
DATE
03-02-2021
REGION
AIP 11q13.2; MEN1 11q13.1; CDKN1B 12p13.1
APPLICATION
Multiple endocrine neoplasia (MEN) type1, 4; Pituitary adenoma predisposition syndrome
MIX
P245-B1
VERSION
Vs. 33
DATE
16-09-2014
REGION
various
APPLICATION
Microdeletion syndromes
MIX
P245-B1
VERSION
Vs. B1-05
DATE
31-01-2019
REGION
Various
APPLICATION
Microdeletion syndromes; Microduplication syndromes
MIX
P245-B1
VERSION
Vs. B1-07
DATE
21-08-2020
REGION
Various
APPLICATION
Microdeletion syndromes; Microduplication syndromes
MIX
P247-A2
VERSION
Vs. 08
DATE
20-06-2016
REGION
CXCR4, CX3CR1, CCR5, CCR2, CD4, CD209
APPLICATION
Chemokines
MIX
P248-A2
VERSION
Vs. 12
DATE
01-03-2013
REGION
MLH1 3p21.3, MSH2 2p21
APPLICATION
Colon cancer, hereditary non-polyposis (HNPCC)
MIX
P248-B1
VERSION
Vs. 13
DATE
10-07-2015
REGION
MLH1 3p21.3, MSH2 2p21
APPLICATION
Colon cancer, hereditary non-polyposis (HNPCC)
MIX
P248-B2
VERSION
Vs. B2-02
DATE
29-10-2021
REGION
MLH1 3p22.2; MSH2 2p21
APPLICATION
Lynch syndrome
MIX
P249-B1
VERSION
Vs. 06
DATE
30-10-2011
REGION
17p, 18p, 19p, 20p
APPLICATION
Subtelomeric screening
MIX
P249-B1
VERSION
Vs. 07
DATE
17-12-2012
REGION
17p, 18p, 19p, 20p
APPLICATION
Subtelomeric screening
MIX
P250-B2
VERSION
Vs. B2-06
DATE
22-01-2021
REGION
22q11.2; 22q13; 17p; 10p; 9q; 8p; 4q
APPLICATION
DiGeorge syndrome; 22q11.2 deletion syndrome; 22q11.2 duplication syndrome; DGS type II; Disorders with phenotypic features of DGS; Cat eye syndrome (CES); Velocardiofacial syndrome (VCFS)
MIX
P250-B2
VERSION
Vs. B2-07
DATE
21-06-2023
REGION
22q11.2; 22q13; 17p; 10p; 9q; 8p; 4q
APPLICATION
DiGeorge syndrome; 22q11.2 deletion syndrome; 22q11.2 duplication syndrome; DGS type II; Disorders with phenotypic features of DGS; Cat eye syndrome (CES); Velocardiofacial syndrome (VCFS)
MIX
P251-C1
VERSION
Vs. 08
DATE
18-7-2011
REGION
1p36, 3p22/3p21.3 and 11q23
APPLICATION
Neuroblastoma
MIX
P251-C2
VERSION
Vs. C2-02
DATE
28-11-2018
REGION
Chr. 1; 3; 11
APPLICATION
Neuroblastoma
MIX
P252-C1
VERSION
Vs. 08
DATE
18-07-2011
REGION
2p24.1/MYCN, 2q33, 17p13/TP53, 17q
APPLICATION
Neuroblastoma
MIX
P253-B1
VERSION
Vs. 06
DATE
26-01-2009
REGION
Chromosomes 4, 7, 9, 12, 14
APPLICATION
Neuroblastoma
MIX
P253-C1
VERSION
Vs. 08
DATE
18-07-2011
REGION
Chromosomes 4, 7, 9, 12, 14
APPLICATION
Neuroblastoma
MIX
P254-B1
VERSION
Vs. 08
DATE
04-12-2015
REGION
PSEN1 14q24.2
APPLICATION
Alzheimer's disease (AD)
MIX
P254-B2
VERSION
Vs. B2-01
DATE
31-08-2018
REGION
PSEN1 14q24.2
APPLICATION
Alzheimer's disease (AD)
MIX
P255-B1
VERSION
Vs. 08
DATE
20-02-2015
REGION
ALDOB 9q21
APPLICATION
Fructose intolerance
MIX
P255-B1
VERSION
Vs. 09
DATE
02-06-2017
REGION
ALDOB 9q21
APPLICATION
Fructose intolerance
MIX
P255-B1
VERSION
Vs. B1-01
DATE
14-01-2021
REGION
ALDOB 9q31.1; FBP1 9q22.32
APPLICATION
Fructose intolerance, hereditary; Fructose-1,6-bisphosphatase deficiency
MIX
P256-B4
VERSION
Vs. B4-01
DATE
23-10-2018
REGION
FLCN 17p11.2; Smith-Magenis syndrome region
APPLICATION
Birt-Hogg-Dube syndrome
MIX
P256-C1
VERSION
Vs. C1-01
DATE
12-12-2019
REGION
FLCN 17p11.2; Smith-Magenis syndrome region
APPLICATION
Birt-Hogg-Dube syndrome
MIX
P256-C1
VERSION
Vs. C1-02
DATE
17-08-2021
REGION
FLCN 17p11.2; Smith-Magenis syndrome region
APPLICATION
Birt-Hogg-Dube syndrome
MIX
P257-A2
VERSION
Vs. 04
DATE
30-10-2011
REGION
DKC1 Xq28
APPLICATION
Dyskeratosis congenita (DC)
MIX
P257-A3
VERSION
Vs. A3-01
DATE
30-04-2018
REGION
DKC1 Xq28; TERT 5p15.33; TERC 3q26.2
APPLICATION
Dyskeratosis congenita (DC)
MIX
P257-A3
VERSION
Vs. A3-02
DATE
01-02-2022
REGION
DKC1 Xq28; TERT 5p15.33; TERC 3q26.2
APPLICATION
Dyskeratosis congenita (DC)
MIX
P258-C1
VERSION
Vs. 07
DATE
29-10-2014
REGION
SMARCB1 22q11.2
APPLICATION
Rhabdoid tumors
MIX
P258-C1
VERSION
Vs. 08
DATE
28-01-2016
REGION
SMARCB1 22q11.2
APPLICATION
Rhabdoid tumors
MIX
P258-C2
VERSION
Vs. C2-01
DATE
30-08-2019
REGION
SMARCB1 22q11.23
APPLICATION
Rhabdoid tumors predisposition syndrome
MIX
P258-C2
VERSION
Vs. C2-02
DATE
19-07-2023
REGION
SMARCB1 22q11.23
APPLICATION
Rhabdoid tumors predisposition syndrome, Coffin-Siris syndrome
MIX
P259-B2
VERSION
Vs. 06
DATE
07-02-2014
REGION
RPS6KA3 Xp22.2-p22.1, PQBP1 Xq11.2
APPLICATION
Coffin-Lowry Syndrome (CLS)
MIX
P259-B3
VERSION
Vs. 07
DATE
28-07-2017
REGION
RPS6KA3 Xp22.2-p22.1, PQBP1 Xq11.2
APPLICATION
Coffin-Lowry Syndrome (CLS)